Aliases for HSPD1 Gene
External Ids for HSPD1 Gene
Previous HGNC Symbols for HSPD1 Gene
Previous GeneCards Identifiers for HSPD1 Gene
This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
GeneCards Summary for HSPD1 Gene
HSPD1 (Heat Shock Protein Family D (Hsp60) Member 1) is a Protein Coding gene. Diseases associated with HSPD1 include spastic paraplegia 13, autosomal dominant and leukodystrophy, hypomyelinating, 4. Among its related pathways are Transport to the Golgi and subsequent modification and SIDS Susceptibility Pathways. GO annotations related to this gene include poly(A) RNA binding and ATPase activity.
UniProtKB/Swiss-Prot for HSPD1 Gene
Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix.